Canonical Allele Identifier: CA620705463

Gene: PKD1 PKD1-AS1

Linked Data

• dbSNP Id: rs1229928837
• gnomAD v2: 16-2144035-CTG-C
• gnomAD v4: 16-2094034-CTG-C
• MyVariant Identifiers: chr16:g.2144036_2144037del (hg19) ; chr16:g.2094035_2094036del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2094037_2094038del , CM000678.2:g.2094037_2094038del	GRCh38
NC_000016.9:g.2144038_2144039del , CM000678.1:g.2144038_2144039del	GRCh37
NC_000016.8:g.2084039_2084040del	NCBI36
NG_008617.1:g.49185_49186del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.10619-23_10619-22del (PKD1) MANE Select	ENSP00000262304.4:n.10619-23_10619-22del
ENST00000262304.8:c.10619-23_10619-22del (PKD1)	ENSP00000262304.4:n.10619-23_10619-22del
ENST00000423118.5:c.10616-23_10616-22del (PKD1)	ENSP00000399501.1:n.10616-23_10616-22del
ENST00000472659.1:n.56-23_56-22del (PKD1)
ENST00000487932.5:c.5181-23_5181-22del (PKD1)	ENSP00000457132.1:n.5181-23_5181-22del
NM_000296.3:c.10616-23_10616-22del (PKD1)	NP_000287.3:n.10616-23_10616-22del
NM_001009944.2:c.10619-23_10619-22del (PKD1)	NP_001009944.2:n.10619-23_10619-22del
XM_005255370.2:c.7574-23_7574-22del (PKD1)	XP_005255427.1:n.7574-23_7574-22del
XM_011522525.1:c.10697-23_10697-22del (PKD1)	XP_011520827.1:n.10697-23_10697-22del
XM_011522526.1:c.10694-23_10694-22del (PKD1)	XP_011520828.1:n.10694-23_10694-22del
XM_011522527.1:c.10679-23_10679-22del (PKD1)	XP_011520829.1:n.10679-23_10679-22del
XM_011522528.1:c.10673-23_10673-22del (PKD1)	XP_011520830.1:n.10673-23_10673-22del
XM_011522529.1:c.10670-23_10670-22del (PKD1)	XP_011520831.1:n.10670-23_10670-22del
XM_011522530.1:c.10643-23_10643-22del (PKD1)	XP_011520832.1:n.10643-23_10643-22del
XM_011522531.1:c.10625-23_10625-22del (PKD1)	XP_011520833.1:n.10625-23_10625-22del
XM_011522532.1:c.10571-23_10571-22del (PKD1)	XP_011520834.1:n.10571-23_10571-22del
XM_011522533.1:c.10490-23_10490-22del (PKD1)	XP_011520835.1:n.10490-23_10490-22del
XM_011522534.1:c.10433-23_10433-22del (PKD1)	XP_011520836.1:n.10433-23_10433-22del
XM_011522535.1:c.8519-23_8519-22del (PKD1)	XP_011520837.1:n.8519-23_8519-22del
XM_011522537.1:c.7697-23_7697-22del (PKD1)	XP_011520839.1:n.7697-23_7697-22del
XR_932867.1:n.10712-23_10712-22del (PKD1)
XR_932868.1:n.10712-23_10712-22del (PKD1)
XR_932869.1:n.10712-23_10712-22del (PKD1)
XR_932870.1:n.10712-23_10712-22del (PKD1)
XR_933000.1:n.214-641_214-640del (PKD1-AS1)
XR_933001.1:n.304-684_304-683del (PKD1-AS1)
XR_933002.1:n.213-641_213-640del (PKD1-AS1)
XR_933003.1:n.213-684_213-683del (PKD1-AS1)
NR_135175.1:n.304-684_304-683del (PKD1-AS1)
XM_005255370.3:c.7574-23_7574-22del (PKD1)	XP_005255427.1:n.7574-23_7574-22del
XM_011522528.3:c.10673-23_10673-22del (PKD1)	XP_011520830.1:n.10673-23_10673-22del
XM_011522529.2:c.10670-23_10670-22del (PKD1)	XP_011520831.1:n.10670-23_10670-22del
XM_011522537.2:c.7697-23_7697-22del (PKD1)	XP_011520839.1:n.7697-23_7697-22del
XM_024450298.1:c.10739-23_10739-22del (PKD1)	XP_024306066.1:n.10739-23_10739-22del
XM_024450299.1:c.10667-23_10667-22del (PKD1)	XP_024306067.1:n.10667-23_10667-22del
XM_024450300.1:c.10529-23_10529-22del (PKD1)	XP_024306068.1:n.10529-23_10529-22del
XM_024450301.1:c.8615-23_8615-22del (PKD1)	XP_024306069.1:n.8615-23_8615-22del
NM_000296.4:c.10616-23_10616-22del (PKD1)	NP_000287.4:n.10616-23_10616-22del
NM_001009944.3:c.10619-23_10619-22del (PKD1) MANE Select	NP_001009944.3:n.10619-23_10619-22del